Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs730880492
rs730880492
LAMP2
1.000 0.160 X 120447993 frameshift variant -/TGTTG delins 5.5E-06; 5.5E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0